A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14414355



Internal ID4416171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24374856..24377400hg38UCSC Ensembl
Innerchr12:24374861..24377396hg38UCSC Ensembl
Outerchr12:24374852..24377405hg38UCSC Ensembl
chr12:24527790..24530334hg19UCSC Ensembl
Innerchr12:24527795..24530330hg19UCSC Ensembl
Outerchr12:24527786..24530339hg19UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg382545
hg192545
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628869
Supporting Variants
SamplesHG01435
Known GenesSOX5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14414355
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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